| pubmed-article:1321346 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:1321346 | lifeskim:mentions | umls-concept:C0033684 | lld:lifeskim |
| pubmed-article:1321346 | lifeskim:mentions | umls-concept:C0017337 | lld:lifeskim |
| pubmed-article:1321346 | lifeskim:mentions | umls-concept:C0021547 | lld:lifeskim |
| pubmed-article:1321346 | lifeskim:mentions | umls-concept:C0028860 | lld:lifeskim |
| pubmed-article:1321346 | lifeskim:mentions | umls-concept:C0205250 | lld:lifeskim |
| pubmed-article:1321346 | lifeskim:mentions | umls-concept:C2700640 | lld:lifeskim |
| pubmed-article:1321346 | lifeskim:mentions | umls-concept:C1334043 | lld:lifeskim |
| pubmed-article:1321346 | pubmed:issue | 6383 | lld:pubmed |
| pubmed-article:1321346 | pubmed:dateCreated | 1992-8-20 | lld:pubmed |
| pubmed-article:1321346 | pubmed:abstractText | Lowe's oculocerebrorenal syndrome (OCRL) is a human X-linked developmental disorder of unknown pathogenesis and has a pleiotropic phenotype affecting the lens, brain and kidneys. The OCRL locus has been mapped to Xq25-q26 by linkage and by finding de novo X; autosome translocations at Xq25-q26 in two unrelated females with OCRL. Here we use yeast artificial chromosomes with inserts that span the X chromosomal breakpoint from a female OCRL patient in order to isolate complementary DNAs for a gene that is interrupted by the translocation. We show that the transcript is absent in both female OCRL patients with X; autosome translocations and that it is absent or abnormally sized in 9 of 13 unrelated male OCRL patients with no detectable genomic rearrangement. The open reading frame encodes a new protein with 71% similarity to human inositol polyphosphate-5-phosphatase. Our results suggest that OCRL may be an inborn error of inositol phosphate metabolism. | lld:pubmed |
| pubmed-article:1321346 | pubmed:language | eng | lld:pubmed |
| pubmed-article:1321346 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1321346 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:1321346 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1321346 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1321346 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1321346 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1321346 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:1321346 | pubmed:month | Jul | lld:pubmed |
| pubmed-article:1321346 | pubmed:issn | 0028-0836 | lld:pubmed |
| pubmed-article:1321346 | pubmed:author | pubmed-author:LewisR ARA | lld:pubmed |
| pubmed-article:1321346 | pubmed:author | pubmed-author:NelsonD LDL | lld:pubmed |
| pubmed-article:1321346 | pubmed:author | pubmed-author:McInnesR RRR | lld:pubmed |
| pubmed-article:1321346 | pubmed:author | pubmed-author:BainesJ AJA | lld:pubmed |
| pubmed-article:1321346 | pubmed:author | pubmed-author:OkabeII | lld:pubmed |
| pubmed-article:1321346 | pubmed:author | pubmed-author:NussbaumR LRL | lld:pubmed |
| pubmed-article:1321346 | pubmed:author | pubmed-author:AttreeOO | lld:pubmed |
| pubmed-article:1321346 | pubmed:author | pubmed-author:OlivosI MIM | lld:pubmed |
| pubmed-article:1321346 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:1321346 | pubmed:day | 16 | lld:pubmed |
| pubmed-article:1321346 | pubmed:volume | 358 | lld:pubmed |
| pubmed-article:1321346 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:1321346 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:1321346 | pubmed:pagination | 239-42 | lld:pubmed |
| pubmed-article:1321346 | pubmed:dateRevised | 2010-11-18 | lld:pubmed |
| pubmed-article:1321346 | pubmed:meshHeading | pubmed-meshheading:1321346-... | lld:pubmed |
| pubmed-article:1321346 | pubmed:meshHeading | pubmed-meshheading:1321346-... | lld:pubmed |
| pubmed-article:1321346 | pubmed:meshHeading | pubmed-meshheading:1321346-... | lld:pubmed |
| pubmed-article:1321346 | pubmed:meshHeading | pubmed-meshheading:1321346-... | lld:pubmed |
| pubmed-article:1321346 | pubmed:meshHeading | pubmed-meshheading:1321346-... | lld:pubmed |
| pubmed-article:1321346 | pubmed:meshHeading | pubmed-meshheading:1321346-... | lld:pubmed |
| pubmed-article:1321346 | pubmed:meshHeading | pubmed-meshheading:1321346-... | lld:pubmed |
| pubmed-article:1321346 | pubmed:meshHeading | pubmed-meshheading:1321346-... | lld:pubmed |
| pubmed-article:1321346 | pubmed:meshHeading | pubmed-meshheading:1321346-... | lld:pubmed |
| pubmed-article:1321346 | pubmed:meshHeading | pubmed-meshheading:1321346-... | lld:pubmed |
| pubmed-article:1321346 | pubmed:meshHeading | pubmed-meshheading:1321346-... | lld:pubmed |
| pubmed-article:1321346 | pubmed:meshHeading | pubmed-meshheading:1321346-... | lld:pubmed |
| pubmed-article:1321346 | pubmed:meshHeading | pubmed-meshheading:1321346-... | lld:pubmed |
| pubmed-article:1321346 | pubmed:meshHeading | pubmed-meshheading:1321346-... | lld:pubmed |
| pubmed-article:1321346 | pubmed:meshHeading | pubmed-meshheading:1321346-... | lld:pubmed |
| pubmed-article:1321346 | pubmed:year | 1992 | lld:pubmed |
| pubmed-article:1321346 | pubmed:articleTitle | The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. | lld:pubmed |
| pubmed-article:1321346 | pubmed:affiliation | Department of Human Genetics, University of Pennsylvania School of Medicine, Philadelphia 19104-6145. | lld:pubmed |
| pubmed-article:1321346 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:1321346 | pubmed:publicationType | Comparative Study | lld:pubmed |
| pubmed-article:1321346 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:1321346 | pubmed:publicationType | Research Support, U.S. Gov't, Non-P.H.S. | lld:pubmed |
| pubmed-article:1321346 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:4952 | entrezgene:pubmed | pubmed-article:1321346 | lld:entrezgene |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1321346 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1321346 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1321346 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1321346 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1321346 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1321346 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1321346 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1321346 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1321346 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1321346 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1321346 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1321346 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1321346 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1321346 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1321346 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1321346 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1321346 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1321346 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1321346 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1321346 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1321346 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1321346 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1321346 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1321346 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1321346 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1321346 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1321346 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1321346 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1321346 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1321346 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1321346 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1321346 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1321346 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1321346 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1321346 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1321346 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1321346 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1321346 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1321346 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:1321346 | lld:pubmed |
